A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968907



Internal ID18604135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40832395..40834708hg38UCSC Ensembl
Innerchr5:40832497..40834810hg19UCSC Ensembl
Innerchr5:40868254..40870567hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382314
hg192314
hg182314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2354273, nssv2354264, nssv2354272, nssv2354271, nssv2354268, nssv2354270, nssv2354269, nssv2354267, nssv2354266, nssv2354265
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL37, SNORD72
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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